Edward Benz, Jr., MD
|Hospital Title||President and CEO, Dana Farber Cancer Institute|
|Academic Title||Richard and Susan Smith Professor of Medicine, Genetics and Pediatrics|
450 Brookline Ave., D1628
Boston, MA 02215
The Benz laboratory focuses on the molecular pathology and physiology of red cell development, the molecular basis of inherited hemolytic anemias, and the use of the red cell homeostatic system as a model to study gene regulation differentiation and growth control in other tissues.
During the past five years, Benz and colleagues have focused on the structure, function, gene regulation, and molecular pathology of protein 4.1. This cytoskeletal protein, originally described in the red cell, forms a ternary complex with spectrin actin, and attaches the spectrin latticework to membranes by binding to the cytoplasmic domains of key transmembrane proteins. Defects in this protein are associated with hereditary erythrocytosis. The laboratory has shown that many isoforms of protein 4.1 arise from a single protein 4.1R gene by tissue-specific and stage-specific alternative mRNA splicing pathways, a number of which they have characterized. The group has identified at least three several key target sequence areas motifs and one putative has implicated and characterized at least three splicing factors involved governing the in tissue-specific regulation of red cell isoforms during erythroid differentiation. In addition, structure function studies of p4.1R isoforms produced in other cell lineages have shown that they play key roles in mitosis, cell-cell junctions and muscle costameres. For example, disruption of p4.1R expression alters the topology of the mitotic spindle and promotes the development of aneuploidy.
About Edward Benz
Dr. Benz received his bachelor’s degree from Princeton and his MD from Harvard Medical School. He completed an internship and residency at Brigham and Women's Hospital and fellowships at the National Institutes of Health, Boston Children’s Hospital and Yale.
He is President and CEO of Dana-Farber Cancer Institute, CEO of Dana-Farber/Partners CancerCare, Director and Principal Investigator of Dana-Farber/Harvard Cancer Center, and a member of the Governing Board of Dana-Farber/Children's Cancer Center. He is past president of ASH, ASCI, AACI and current president of ACCA..
- Huang SC, Ou AC, Park J, Yu F, Yu B, Lee A, Yang G, Zhou A, Benz EJ Jr. 2012. RBFOX2 Promotes Protein 4.1R Exon 16 Selection via U1 snRNP Recruitment. Mol Cell Biol. 32:513-26.
- Benz, EJ, Wu, CC, Sohani, AR: 2011. Case 25-2011: A 62 year old woman with anemia and paraspinal masses. N Engl J Med 365:7.
- Gao G, Xie A, Huang SC, Zhou A, Zhang J, Herman AM, Ghassemzadeh S, Jeong EM, Kasturirangan S, Raicu M, Sobieski MA 2nd, Bhat G, Tatooles A, Benz EJ Jr, Kamp TJ, Dudley SC Jr. 2011. Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure. Circulation. 124:1124-31.
- Levit, L, Smith, AP, Benz, EJ, Ferrell, B. 2010. Ensuring quality Cancer care through the oncology workforce. ASCO pubs. Pg.7-11.
- Mattagajasingh SN, Huang SC, Benz EJ Jr. 2009. Inhibition of protein 4.1 R and NuMA interaction by mutagenization of their binding-sites abrogates nuclear localization of 4.1 R. Clin Transl Sci. 2:102-11.
- Huang SC, Cho A, Norton S, Liu ES, Park J, Zhou A, Munagala ID, Ou AC, Yang G, Wickrema A, Tang TK, Benz EJ Jr. 2009. Coupled transcription-splicing regulation of mutually exclusive splicing events at the 5' exons of protein 4.1R gene. Blood. 114:4233-42.
- Zhou A, Ou AC, Cho A, Benz EJ Jr, Huang SC. 2008. Novel splicing factor RBM25 modulates Bcl-x pre-mRNA 5' splice site selection. Mol Cell Biol. 28:5924-36.
- Yang G, Huang SC, Wu JY, Benz EJ Jr. 2008. Regulated Fox-2 isoform expression mediates protein 4.1R splicing during erythroid differentiation. Blood. 111:392-401.
- Huang SC, Liu ES, Chan SH, Munagala ID, Cho HT, Jagadeeswaran R, Benz EJ Jr. Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase. Mol Biol Cell 2005; 16:117-27.
- Yang G, Huang SC, Wu JY, Benz EJ Jr. An erythroid differentiation-specific splicing switch in protein 4.1R mediated by the interaction of SF2/ASF with an exonic splicing enhancer. Blood 2005; 105:2146-53.
- Huang SC, Jagadeeswaran R, Liu ES, Benz EJ Jr. Protein 4.1R, a microtubule-associated protein involved in microtubule aster assembly in mammalian mitotic extract. J Biol Chem 2004; 279:34595-602.